New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients - Pérez‐Grijalba - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library
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PDF) Intragenic duplication of EHMT1 gene results in Kleefstra syndrome
Rubinstein–Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum
Genes, Free Full-Text
Examples of exon array comparative genomic hybridization data from four
Examples of exon array comparative genomic hybridization data from four
A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics
PDF) New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐ positive patients
PDF) Intragenic duplication of EHMT1 gene results in Kleefstra syndrome
PDF) New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐ positive patients
Molecular insight into CREBBP and TANGO2 variants causing intellectual disability - Hussain - The Journal of Gene Medicine - Wiley Online Library
Molecular insight into CREBBP and TANGO2 variants causing intellectual disability - Hussain - The Journal of Gene Medicine - Wiley Online Library
Divergent variant patterns among 19 patients with Rubinstein‐Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing - Enomoto - 2022 - Clinical Genetics - Wiley Online Library
The behavioral phenotype of Rubinstein–Taybi syndrome: A scoping review of the literature - Awan - 2022 - American Journal of Medical Genetics Part A - Wiley Online Library
New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients - Pérez‐Grijalba - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library
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